banner
Genes Phenotypes Help, News, Blog

Gene: Enam MGI:1333772

Log in to follow

Gene Summary

Name:
enamelin
Synonyms:
abte

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
small superior vagus ganglion Enamem1(IMPC)Tcp HOM Early adult 0.00
hydrometra Enamem1(IMPC)Tcp HOM Early adult 0.00
enlarged heart Enamem1(IMPC)Tcp HOM Early adult 0.00
abnormal heart morphology Enamem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Enam mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Enam by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650

The table below shows human diseases predicted to be associated to Enam by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Steatocystoma Multiplex
Natal tooth OMIM:184500
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita OMIM:217150
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Taurodontism
Taurodontia OMIM:272700
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79405
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Natal tooth ORPHA:99811
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Atrophic scars OMIM:226700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis ORPHA:2026
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Acrofacial Dysostosis, Weyers Type
Advanced eruption of teeth, Solitary median maxillary central incisor, Conical tooth, Abnormality... ORPHA:952
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... OMIM:234250
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Pyle Disease
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... OMIM:265900
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum ORPHA:99329
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... OMIM:618363
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Jalili Syndrome
Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis OMIM:217080
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Catifa Syndrome
Inguinal hernia, Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly,... OMIM:618761
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Widely spaced teeth, Conical tooth OMIM:613573
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia OMIM:604625
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Aredyld Syndrome
Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho... ORPHA:1133
Ramon Syndrome
Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth, Gingival fibromatosis ORPHA:3019
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Oligodontia, Natal tooth OMIM:601345
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp OMIM:612843
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... OMIM:272440
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia OMIM:610706
Seckel Syndrome 5
Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia... OMIM:613823
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Abnormality of the dentition, Everted lower lip vermilion, Mic... ORPHA:1515
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Shagreen patch, Delayed eruption of teeth ORPHA:1816
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, Thin upper lip vermilion, ... OMIM:619719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta ORPHA:166277
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... OMIM:614753
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Malar flattening, Hypodontia, Premature loss of permanent teeth OMIM:212780
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth OMIM:615905
Intellectual Disability, Birk-Barel Type
High, narrow palate, Short philtrum, Foot joint contracture, Incisor macrodontia, Congenital fing... ORPHA:166108
Ethanolaminosis
Cardiomegaly OMIM:227150
Nance-Horan Syndrome
Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar OMIM:302350
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum OMIM:615502
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... OMIM:613684
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth ORPHA:181
Bent Bone Dysplasia Syndrome 1
Gingival overgrowth, Micrognathia, Natal tooth, Malar flattening OMIM:614592
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Cleft palate, Natal tooth, Short philtrum, Scarring alopecia of scalp OMIM:617337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Usher Syndrome Type 1
Abnormal dental enamel morphology ORPHA:231169
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Lacrimoauriculodentodigital Syndrome 3
Enamel hypoplasia, Carious teeth, Widely spaced teeth OMIM:620193
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Mulibrey Nanism
Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo... OMIM:253250
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth OMIM:613312
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... ORPHA:69087
Pachyonychia Congenita 2
Natal tooth, Angular cheilitis, Oral leukoplakia OMIM:167210
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp ORPHA:59303
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Craniometadiaphyseal Dysplasia
Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Natal tooth, Mal... OMIM:269300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth OMIM:620114
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters OMIM:226730
Braddock-Carey Syndrome 1
Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Cleft palate, Pierre-Robin sequenc... OMIM:619980
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis, Elevated circulating alk... OMIM:615198
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79411
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Taurodontia OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Scarring alopecia of scalp, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth... OMIM:618727
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Exaggerated cupid's bow, Wide mouth, Thick vermilion border OMIM:618506
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology ORPHA:3236
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth... ORPHA:2863
Pachyonychia Congenita
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia ORPHA:2309
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth OMIM:616901
Oculoskeletodental Syndrome
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia ORPHA:557003
Qazi-Markouizos Syndrome
High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum ORPHA:3010
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum OMIM:605282
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Carious teeth, Multicystic kidney dysplasia, Abnormality of the denti... ORPHA:3270
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Delayed eruption of teeth OMIM:614450
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta OMIM:610967
Eem Syndrome
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... ORPHA:1897
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Malar flattening OMIM:614727
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta OMIM:259440
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Inguinal hernia, Delayed eruption of teeth, Abnormal dental... ORPHA:10
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cleft palate, T... OMIM:619736
Cockayne Syndrome Type 2
Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont... ORPHA:90322
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downturned corners ... OMIM:617865
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta OMIM:301014
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth OMIM:614381
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Malar... OMIM:618874
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Increased adipose tissue, Lipodystrophy, Odontogenic kerat... ORPHA:199276
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Hypoplasia of teeth, Accessory oral frenulum, Flexion contracture, Camptodactyly ORPHA:88630
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Micrognathia, Natal tooth OMIM:617802
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Dentinogenesis imperfecta OMIM:613849
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth ORPHA:1656
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormality of the dentition ORPHA:2501
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco... OMIM:226600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia ORPHA:3214
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta OMIM:619795
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum OMIM:618825
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Immunodeficiency 49
Micrognathia, Natal tooth, Short philtrum, Umbilical hernia OMIM:617237
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology ORPHA:816
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum... OMIM:157980
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor... ORPHA:2169
Trichothiodystrophy 3, Photosensitive
Eclabion, Carious teeth, Natal tooth OMIM:616395
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Increased mean corpuscular volume, Le... ORPHA:232
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Inguinal hernia, Premature loss of teeth, Gingival ove... ORPHA:137834
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Microdontia, Micrognathia, Open mouth, Delayed eruption of permanent teeth OMIM:619356
Teebi Hypertelorism Syndrome 1
Dental crowding, Omphalocele, Micrognathia, Natal tooth, Long philtrum, Thin upper lip vermilion OMIM:145420
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Laron Syndrome
Micrognathia, Delayed eruption of teeth, Microdontia, Tooth agenesis ORPHA:633
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Advanced eruption of teeth, Loss of subcutaneous adipose tissue in limbs, Lipodystro... ORPHA:2348
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl... OMIM:129400
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Increased mean corpuscular hemoglobin concentration, Increased mea... OMIM:616689
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo... ORPHA:3220
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thromb... OMIM:617021
Kleefstra Syndrome 1
Mandibular prognathia, Everted lower lip vermilion, Persistence of primary teeth, Protruding tong... OMIM:610253
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transamina... OMIM:607765
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Elevated circulating hepatic transaminase ... ORPHA:98870
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Smoo... OMIM:249620
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oligodontia, Enamel hypoplasia, Cleft palate, Pierre-Robin sequence, Thick vermi... OMIM:619184
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod... OMIM:618067
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Dental malocclusion OMIM:618292
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Tetrasomy 12P
Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Downturn... ORPHA:884
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth OMIM:619797
Dysosteosclerosis
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth ORPHA:1782
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Scarf Syndrome
Inguinal hernia, Enamel hypoplasia, Umbilical hernia, Long philtrum, Hypocalcification of dental ... ORPHA:3134
Hypophosphatasia, Childhood
Carious teeth, Premature loss of primary teeth OMIM:241510
Temtamy Preaxial Brachydactyly Syndrome
Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of the dentition... ORPHA:363417
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening ORPHA:2180
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... OMIM:265800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate... OMIM:170390
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid... OMIM:619293
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Microdont... ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Abnormality of the dentition ORPHA:1264
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E... OMIM:618342
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin... OMIM:257850
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth ORPHA:94089
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology ORPHA:257
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Malar flattening OMIM:616108
Kleefstra Syndrome Due To A Point Mutation
Thick lower lip vermilion, Inguinal hernia, Abnormality of the dentition, Natal tooth, Umbilical ... ORPHA:261652
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cleft palate, Natal tooth ORPHA:158687
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, Enamel hypopla... OMIM:210600
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upper lip, Natal tooth, Hypo... OMIM:225500
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Low alkaline phosph... OMIM:146300
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog... OMIM:620366
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta OMIM:613982
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Pycnodysostosis
Obtuse angle of mandible, High palate, Abnormality of the dentition, Persistence of primary teeth... ORPHA:763
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Craniosynostosis 3
Dental malocclusion OMIM:615314
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Cranioectodermal Dysplasia 4
Thin vermilion border, Smooth philtrum, Taurodontia OMIM:614378
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormal dental morphology OMIM:163200
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Acrocraniofacial Dysostosis
Micrognathia, Advanced eruption of teeth, Cleft palate, Short philtrum ORPHA:949
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Craniometaphyseal Dysplasia, Autosomal Recessive
Delayed eruption of permanent teeth, Broad alveolar ridges, Mandibular prognathia, Facial hyperos... OMIM:218400
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Mucopolysaccharidosis Type 4
Grayish enamel, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, W... ORPHA:582
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Oslam Syndrome
Carious teeth ORPHA:2760
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o... ORPHA:2980
Cole-Carpenter Syndrome 1
Micrognathia, Dentinogenesis imperfecta, Microdontia OMIM:112240
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hypodontia, Enamel hypoplasia, Oligodontia OMIM:607626
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... ORPHA:192
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, High palate, Cleft palate, Wide mouth, Thick vermi... OMIM:614608
Blepharo-Cheilo-Odontic Syndrome
Bilateral cleft palate, Carious teeth, Conical tooth ORPHA:1997
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Advanced eruption of teeth, Inguinal hernia, Broad alveolar ridges, Exaggerated cupid's bow, Narr... ORPHA:2215
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B... OMIM:616354
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Carious teeth, Delayed eruption of teeth OMIM:277440
Specific Granule Deficiency 2
Amelogenesis imperfecta, Conical tooth, Tooth malposition OMIM:617475
48,Xxxy Syndrome
Inguinal hernia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognat... ORPHA:96263
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Premature loss of teeth, Short philtrum OMIM:156510
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Inguinal hernia, Delayed eruption of teeth, High palat... OMIM:614607
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Smo... ORPHA:2563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corp... OMIM:611590
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... ORPHA:438216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Familial Expansile Osteolysis
Fragile teeth, Premature loss of teeth, Osteolysis, Pathologic fracture, Elevated circulating alk... OMIM:174810
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth, High ... OMIM:619148
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Increased circul... OMIM:613839
Temtamy Syndrome
Long philtrum, Dental crowding, Micrognathia, Hypoplasia of teeth OMIM:218340
Osteoglosphonic Dysplasia
Tooth agenesis, Micrognathia, Inguinal hernia, Multiple unerupted teeth ORPHA:2645
Kilquist Syndrome
Hypoplasia of teeth, Mandibular prognathia, Wide mouth OMIM:619080
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... ORPHA:98850
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, High palate, Cigarette-paper scars, Camptodactyly of finger, Bifid uvu... OMIM:612350
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... OMIM:150400
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... OMIM:239100
Trisomy 4P
Abnormal palate morphology, Abnormality of the dentition, Camptodactyly of finger, Carious teeth,... ORPHA:1738
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Cleft palate, Microdontia, Widely spaced teeth ORPHA:2728
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition OMIM:615802
Fgfr2-Related Bent Bone Dysplasia
Gingival overgrowth, Micrognathia, Natal tooth ORPHA:313855
Dysosteosclerosis
Delayed eruption of teeth, Absent frontal sinuses, Premature loss of teeth, Oligodontia, High pal... OMIM:224300
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Gingival overgrowth, High palate, Everted... ORPHA:420561
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... OMIM:118400
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... ORPHA:199302
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating... OMIM:278000
Aarskog-Scott Syndrome
Orofacial cleft, Inguinal hernia, Delayed eruption of teeth, Abnormality of the dentition, Everte... ORPHA:915
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Delayed eruption of teeth, Elbow flexion contracture, Camptodactyly, Cario... OMIM:214150
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Congenital diaphragmatic hernia, Inguinal hernia, Toot... ORPHA:2063
Proteus Syndrome
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Cereb... OMIM:176920
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Diastema, Microdontia OMIM:619718
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Orofacial Cleft 15
Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c... OMIM:616788
Flynn-Aird Syndrome
Carious teeth OMIM:136300
Raine Syndrome
Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, Protruding to... OMIM:259775
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Short philtrum ORPHA:93945
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Glycogen Storage Disease Vi
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Fa... OMIM:232700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth OMIM:264700
49,Xxxxy Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, C... ORPHA:96264
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Camptodactyly, Joint contracture of the hand OMIM:113000
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persistence of hemoglobin F... OMIM:612561
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p... ORPHA:1248
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma... ORPHA:364028
Kabuki Syndrome 2
High palate, Micrognathia, Cleft palate, Natal tooth, Hypodontia, Lower lip pit, Dental malocclusion OMIM:300867
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Anemia, Calvarial osteosclerosis, Pancytopenia, Increased bone min... OMIM:259700
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Codas Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro... OMIM:620250
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Inguinal hernia, Talon cusp, ... ORPHA:2409
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Carious teeth, Gingivitis ORPHA:3194
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hypochromia, Elevated ... OMIM:616860
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti... ORPHA:2916
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani... OMIM:122860
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant ce... ORPHA:79303
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Carious teeth, Abnormal palate morphology, Malar flattening ORPHA:1390
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Carious teeth, Hypodontia, Limb joint contracture OMIM:612079
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Retrognathia OMIM:614576
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion OMIM:608931
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed... ORPHA:2712
Xfe Progeroid Syndrome
Enamel hypoplasia, Premature loss of teeth, Corneal scarring, Absence of subcutaneous fat OMIM:610965
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion OMIM:615541
Cohen Syndrome
High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Macrodo... OMIM:216550
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Kleefstra Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Mandibular prognathia, Exaggerated cupid's... ORPHA:261494
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Carious teeth, Thick lower lip vermilion, Narrow mouth ORPHA:457365
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277410
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters ORPHA:79403
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Char Syndrome
Short philtrum, Triangular mouth, Everted lower lip vermilion, Persistence of primary teeth, Mala... ORPHA:46627
Mandibuloacral Dysplasia
Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ... ORPHA:2457
Potocki-Lupski Syndrome
Dental malocclusion, Dental crowding, Mandibular prognathia, High palate, Failure to thrive, Micr... OMIM:610883
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Thin upper lip vermilion, Smooth philtrum, Hypoplasia of the maxilla OMIM:618737
Mucopolysaccharidosis, Type Iva
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253000
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Open bite, High palate, Narrow mouth, Camptodactyly of finger, Downturned ... ORPHA:1327
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Sotos Syndrome
Narrow palate, Advanced eruption of teeth, High, narrow palate, Mandibular prognathia, High palat... OMIM:117550
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Premature loss of teeth, Selective to... OMIM:164200
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal... ORPHA:3253
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Inguinal hernia, Necrotizing enterocolitis, Elbow flexion contracture, Elevated circu... OMIM:616809
Hamamy Syndrome
Inguinal hernia, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Microgn... OMIM:611174
Short Syndrome
Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali... ORPHA:3163
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta OMIM:166220
Scarf Syndrome
Long philtrum, Enamel hypoplasia, Inguinal hernia, Umbilical hernia OMIM:312830
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati... OMIM:619229
Smith-Magenis Syndrome
Short philtrum, Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Tented upper ... ORPHA:819
Cockayne Syndrome Type 1
Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma... ORPHA:90321
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Three M Syndrome 2
Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening, Long philtrum, ... OMIM:612921
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Weight loss, Pathologic fracture, Elev... ORPHA:668
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Elevated circulating alkaline phosphatase concentration, Thin upper lip vermilio... OMIM:618879
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Hypophosphatemia, Osteomalacia, ... OMIM:193100
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Overhydrated Hereditary Stomatocytosis
Jaundice, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Prolonged neona... OMIM:185000
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta OMIM:610968
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr... OMIM:609628
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Osteogenesis Imperfecta, Type Iii
Micrognathia, Dentinogenesis imperfecta OMIM:259420
Beta-Thalassemia Intermedia
Osteopenia, Decreased liver function, Reduced bone mineral density, Jaundice, Abnormality of iron... ORPHA:231222
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor ORPHA:466722
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Inguinal hernia, Dental crowding, Agenesis of maxillary incisor, High ... OMIM:620545
Chst3-Related Skeletal Dysplasia
Long philtrum, Flexion contracture, Delayed eruption of teeth ORPHA:263463
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Advanced eruption of teeth, Loss of subcutaneous adipose tissue in limbs, Increased ... ORPHA:280365
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Oligodontia, Delayed eruption of teeth ORPHA:447896
Odontochondrodysplasia 1
Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth OMIM:184260
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Delayed eruption... OMIM:619269
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Dental crowding, Hiatus hernia, Persistence of primary teeth OMIM:619769
Acrofacial Dysostosis, Catania Type
Carious teeth, Micrognathia, Cleft palate, Malar flattening OMIM:101805
Immunodeficiency 9
Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis OMIM:612782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar... OMIM:600081
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Osteoporosis, Neut... OMIM:612562
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Increased serum bile acid concentration, Elevated circulating ala... OMIM:619868
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Supernumerary tooth, Abnormal dental morphology, Delayed eruption of teeth ORPHA:3353
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, M... OMIM:266510
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... OMIM:608612
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Omphalocele OMIM:243150
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology OMIM:300831
Refractory Celiac Disease
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... ORPHA:398063
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger ORPHA:1883
Mcdonough Syndrome
Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Micrognathia, Denta... ORPHA:2471
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Carious teeth, Wide ... OMIM:253010
Orofaciodigital Syndrome I
Supernumerary tooth, Polycystic kidney dysplasia, High palate, Ankyloglossia, Agenesis of permane... OMIM:311200
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Cole-Carpenter Syndrome 2
High palate, Dentinogenesis imperfecta, Microretrognathia OMIM:616294
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Accessory oral frenulum, Diastema OMIM:619142
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pursed lips OMIM:241310
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Failure... ORPHA:71
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Incomplete cleft of the upper lip, Hypoplastic facial bones, Lobulated tongue, Cleft... OMIM:616300
Seckel Syndrome
Abnormal dental enamel morphology, Micrognathia, Tooth agenesis ORPHA:808
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia OMIM:240300
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... OMIM:615558
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula, Natal tooth, Malar fl... OMIM:123790
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated alkaline phosphatase of bone origin, Hypocalcemic seizures, Delayed epiphyseal ... ORPHA:289157
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth OMIM:259710
Trisomy 9P
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth ORPHA:236
Lacrimoauriculodentodigital Syndrome 2
Hypodontia, Carious teeth, Microdontia, Conical tooth OMIM:620192
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr... ORPHA:3203
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia OMIM:234050
Arthrogryposis And Ectodermal Dysplasia
Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ... OMIM:601701
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology ORPHA:1334
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hypocalcification of dental enamel ORPHA:169090
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, J... OMIM:235555
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Dental crowding, Gingival overgrowth, Mandibular prognathia, High pal... ORPHA:769
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph... ORPHA:1452
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Osteomalacia, Elevated circulati... ORPHA:89937
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Selective tooth a... OMIM:234100
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Abnormal palate morphology, Open bite, Carious teeth, Micrognathia, Shagreen patch ORPHA:2617
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short philtrum, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturned corners of mouth, Micr... ORPHA:391408
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate OMIM:300676
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia OMIM:619073
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... OMIM:257980
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Failure to thr... OMIM:619484
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout... ORPHA:2108
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Reduced subcutaneous adipose tissue, Micrognathia, Smooth philtru... OMIM:619322
Cleidocranial Dysplasia 1
Narrow palate, Supernumerary tooth, High, narrow palate, Absent frontal sinuses, High palate, Hyp... OMIM:119600
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth OMIM:126550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Celiac Disease, Susceptibility To, 1
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis OMIM:212750
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Atrophic scars, Carious teeth, Atypical scarring of skin, Keloids, Oral mucosal blisters ORPHA:79410
Blomstrand Lethal Chondrodysplasia
Protruding tongue, Micrognathia, Natal tooth, Malar flattening, Long philtrum ORPHA:50945
Cog4-Cdg
Intermittent diarrhea, Elevated circulating hepatic transaminase concentration, Hypercholesterole... ORPHA:263501
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL ch... OMIM:616834
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Long... ORPHA:73223
Hypophosphatasia, Infantile
Anemia, Unossified vertebral bodies, Elevated plasma pyrophosphate, Decreased calvarial ossificat... OMIM:241500
Eiken Syndrome
Thick lower lip vermilion, Short philtrum, Oligodontia, Eruption failure, Multiple unerupted teet... OMIM:600002
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand OMIM:608257
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Flexion contracture of toe, Dental malocclusion, Dental crowding, High... OMIM:300373
Endocrine-Cerebroosteodysplasia
Median cleft palate, Thick upper lip vermilion, Micrognathia, Natal tooth, Bilateral cleft lip, M... OMIM:612651
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta OMIM:166200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Failure to thrive, Hypophosph... OMIM:241530
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Micrognathia, Long philtrum, Dental malocclusion, Macrod... ORPHA:444072
W Syndrome
Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen... ORPHA:2804
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Cleft lip, Notched primary central incisor OMIM:620519
Marshall Syndrome
Thick lower lip vermilion, Absent frontal sinuses, Thick upper lip vermilion, Bifid uvula, Cleft ... OMIM:154780
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Abnormality of the dentition ORPHA:627
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Retrognathia, Microdontia OMIM:210720
Dominant Beta-Thalassemia
Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Diarrhea, Decreased mea... ORPHA:231226
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Inguinal hernia, Narrow mouth, Malar flattening, Prominence of the pr... ORPHA:2412
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth ORPHA:1529
Dyskeratosis Congenita, Autosomal Recessive 6
Premature loss of teeth, Carious teeth, Oral leukoplakia OMIM:616353
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Conjugated hyp... OMIM:214900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Delayed eruption of teeth ORPHA:73272
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal te... OMIM:615923
Sanjad-Sakati Syndrome
Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognat... ORPHA:2323
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Beta-Thalassemia
Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Splenome... ORPHA:848
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Elevated alkaline phosphatase of bone origin, Osteolysis ... ORPHA:73
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou... OMIM:607812
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Delayed eruption of teeth, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Abnormality of alkaline phosphatase level, Elevated circulating creatine kinase concentration, El... OMIM:620375
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion OMIM:613680
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Inguinal hernia, Abnormal dental enamel morphology, Microdontia, Cleft palate, Hypo... ORPHA:1812
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Congenital Disorder Of Glycosylation, Type Iim
Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ... OMIM:300896
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth OMIM:612714
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed eruption of teeth, Tooth malposition, Omphalocele, Micrognathia ORPHA:2484
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... OMIM:619777
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Malar flattening, Hypoplasia of the maxilla ORPHA:261295
Pde4D Haploinsufficiency Syndrome
Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil... ORPHA:439822
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Delayed eruption of teeth, Microdontia, Carious teeth, Micrognathia, Deep philtrum... OMIM:190350
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil... OMIM:615866
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron concentration, S... OMIM:615234
Oculodentodigital Dysplasia
Broad alveolar ridges, Abnormal dental enamel morphology, Non-midline cleft of the upper lip, Man... ORPHA:2710
Squalene Synthase Deficiency
Retrognathia, Increased circulating farnesol concentration, Elbow flexion contracture, Elevated c... OMIM:618156
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Leukopenia, Thrombocyto... OMIM:127550
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... ORPHA:2635
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Smooth tongue, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters ORPHA:79396
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Delayed eruption of teeth, Gingivitis, Abnormality of the dentition, Cleft palate, Cellulitis ORPHA:2314
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Elevated circ... OMIM:619658
Congenital Syphilis
High palate, Notched primary central incisor, Semilunar tooth, Mulberry molar, Hyperplasia of the... ORPHA:499009
Lelis Syndrome
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue ORPHA:140936
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... ORPHA:300298
Schimke Immuno-Osseous Dysplasia
Hypodontia, Abnormal primary molar morphology, Microdontia ORPHA:1830
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate, Abnormality of alkaline phosphatase level, Osteomyelitis OMIM:618010
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Thin vermilion border, Dentinogenesis imperfecta, Umbilical hernia OMIM:614856
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov... OMIM:235510
Codas Syndrome
Enamel hypoplasia, Omphalocele, Delayed eruption of teeth OMIM:600373
Short Syndrome
Lipoatrophy, Inguinal hernia, Delayed eruption of teeth, Reduced subcutaneous adipose tissue, Dow... OMIM:269880
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Hyper... OMIM:614886
Tafro Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Leukocytosis, Incre... ORPHA:457077
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Hepatic f... OMIM:620367
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Everted lower lip vermilion, ... ORPHA:1519
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79409
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta OMIM:616507
Beta-Thalassemia Major
Anisopoikilocytosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Di... ORPHA:231214
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Carious teeth, Deep... ORPHA:2701
Castleman Disease
Intestinal obstruction, Jaundice, Anemia, Elevated circulating C-reactive protein concentration, ... ORPHA:160
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Everted lower lip vermilion, Delayed eruption o... ORPHA:2616
Porphyria, Congenital Erythropoietic
Atypical scarring of skin, Erythrodontia, Corneal scarring, Joint contracture of the hand OMIM:263700
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max... ORPHA:776
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture, Elevated circulating alkalin... OMIM:606631
Johanson-Blizzard Syndrome
Oligodontia, Abnormality of the dentition, Microdontia, Delayed eruption of teeth ORPHA:2315
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormal dental morphology, Microg... ORPHA:85199
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ... OMIM:305100
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Spondylocarpotarsal Synostosis Syndrome
Inguinal hernia, Renal cyst, Enamel hypoplasia, Cleft palate, Failure of eruption of permanent teeth OMIM:272460
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Cleft palate ORPHA:90653
Cenani-Lenz Syndrome
High, narrow palate, Short philtrum, Abnormal dental enamel morphology, Malar flattening, Hypodontia ORPHA:3258
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... OMIM:252100
Cranioectodermal Dysplasia 3
Hypoplasia of teeth, Micrognathia, Widely spaced teeth, Everted lower lip vermilion OMIM:614099
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Knee flexion contracture, Delayed eruption of teeth, Absent frontal si... OMIM:305620
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Narrow mouth, Carious teeth, Downturned corners of mouth, Hypoplasia of th... ORPHA:1110
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:3071
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Abetalipoproteinemia
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Elevated circulating he... ORPHA:14
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology ORPHA:251004
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hypodontia, High palate, Ankyloglossia, Omphalo... ORPHA:2745
Ellis Van Creveld Syndrome
Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ... ORPHA:289
Graft Versus Host Disease
Limited elbow movement, Elevated circulating hepatic transaminase concentration, Limited shoulder... ORPHA:39812
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology ORPHA:1005
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, High palate ORPHA:85279
Distal Duplication 18Q
High palate, Abnormal dental morphology, Carious teeth, Micrognathia, Camptodactyly of finger ORPHA:1716
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Median cleft palate, Omphalocele, Natal tooth, Lobulated tongue, Hamartoma of to... OMIM:269860
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Knee flexion contracture, Mandibular prognathia, Elbow flexion contracture, Abno... OMIM:151050
Recon Progeroid Syndrome
Thin vermilion border, Dental crowding, Smooth philtrum, Delayed eruption of permanent teeth, Pro... OMIM:620370
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Malar flattening, Dental malocclusion ORPHA:436245
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Elevated circulating hepa... OMIM:212065
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Cleft palate, Natal tooth, Cleft lip, Hamartoma of tongue OMIM:617925
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Wide mouth, Lipodystrophy, Long philtrum, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Premature loss of t... OMIM:239000
Emanuel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Tooth malposition, Broad jaw, Dental crowding, ... ORPHA:96170
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang... ORPHA:293967
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Barber-Say Syndrome
Wide mouth, Delayed eruption of teeth ORPHA:1231
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Glossoptosis ORPHA:93346
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosp... OMIM:617093
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... ORPHA:364577
Keipert Syndrome
Hypoplasia of the maxilla, Exaggerated cupid's bow, Tented upper lip vermilion ORPHA:2662
Crisponi/Cold-Induced Sweating Syndrome 1
Retrognathia, Elbow flexion contracture, High palate, Narrow mouth, Camptodactyly, Carious teeth,... OMIM:272430
Atelis Syndrome 1
Long philtrum, Carious teeth, High palate OMIM:620184
Mucopolysaccharidosis, Type Ii
Thick lower lip vermilion, Widely spaced teeth, Inguinal hernia, Delayed eruption of teeth, Flexi... OMIM:309900
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia, Hip contracture, Knee flexion contracture, Long philtrum... ORPHA:85201
Aplasia Of Lacrimal And Salivary Glands
Carious teeth OMIM:180920
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teet... OMIM:603457
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Velopharyngeal insufficiency, Cleft palate, Enamel agenesis, Smooth philtr... OMIM:614701
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con... OMIM:615422
Adnp Syndrome
Advanced eruption of teeth, Thick lower lip vermilion, Inguinal hernia, Smooth philtrum, Umbilica... ORPHA:404448
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... OMIM:616828
Eec Syndrome
Orofacial cleft, Abnormal dental enamel morphology, Microdontia, Tooth agenesis, Carious teeth, C... ORPHA:1896
Stickler Syndrome
Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos... ORPHA:828
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Loss of subcutaneous adipose tissue in limbs, Elbow flexion contracture, Increas... OMIM:248370
Immunodeficiency 114, Folate-Responsive
Aphthous ulcer, Carious teeth, Lip fissure OMIM:620603
Microphthalmia, Lenz Type
Orofacial cleft, Delayed eruption of teeth, Abnormality of the dentition, Abnormal dental morphol... ORPHA:568
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the dentition, Carious teeth, Abnormal oral mucosa morphology, Hypodontia, Abnorma... ORPHA:659
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Open mouth ORPHA:950
Helsmoortel-Van Der Aa Syndrome
Thin vermilion border, Advanced eruption of teeth, Widely spaced teeth, Thick lower lip vermilion... OMIM:615873
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Frontal cutaneous lipoma, Median cleft palate, Camptoda... OMIM:136760
Emanuel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Broad jaw, Dental crowding, High palate, Microg... OMIM:609029
Gapo Syndrome
Abnormal palate morphology, Delayed eruption of teeth, Mandibular prognathia, Everted lower lip v... ORPHA:2067
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, High palate, Tented upper lip vermilion, Umbilical hernia, Macroglossia, Elevate... OMIM:616025
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration OMIM:174050
Fanconi-Bickel Syndrome
Rickets, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Incre... OMIM:227810
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Hypodontia, Everted lower lip vermilion, Microdontia ORPHA:782
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia,... OMIM:601499
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79444
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Abnormality of the dentiti... ORPHA:96169
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Anemia, Elevated circulating hepatic transaminase concentration, Acute co... ORPHA:67
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla OMIM:166300
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Failure to thrive, Splenomegaly, Conju... OMIM:601847
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica... OMIM:200990
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Supernumerary tooth, Advanced eruption of teeth, Abnormal dental... ORPHA:818
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentr... OMIM:607330
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentr... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Iij
Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Failure to thrive, Spl... OMIM:613489
Nail-Patella Syndrome
Elbow flexion contracture, Enamel hypoplasia, Achilles tendon contracture, Flexion contracture, K... ORPHA:2614
Cockayne Syndrome A
Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Reduced subcutane... OMIM:216400
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization OMIM:307800
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Calvarial osteosclerosis ORPHA:93324
Trichothiodystrophy
Retrognathia, High, narrow palate, Enamel hypoplasia, Absence of subcutaneous fat, Carious teeth,... ORPHA:33364
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Long philtrum, Thick vermilion border, Microretrognathia ORPHA:228396
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed eruption of permanent teeth, Mandibular prognathia, Tented upper lip vermilion, Short phi... ORPHA:521445
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Dental malocclusion, Renal cyst, Microretrognathia OMIM:615560
Treacher-Collins Syndrome
Retrognathia, Abnormal dental enamel morphology, Open bite, Glossoptosis, Abnormality of the dent... ORPHA:861
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Mandi... OMIM:209885
Alg12-Cdg
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Gastroesopha... ORPHA:79324
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Failure to thrive, Dysphagia, Splenomegaly, Decreased be... OMIM:230600
Dyskeratosis Congenita
Periodontitis, Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Oral leuko... ORPHA:1775
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Orofaciodigital Syndrome Xiv
Supernumerary tooth, Micrognathia, Cleft palate, Lobulated tongue, Natal tooth, Microretrognathia... OMIM:615948
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Generalized lipodystrophy, Congenital generalized lipodystrophy OMIM:608154
Cranioectodermal Dysplasia 1
High, narrow palate, Widely spaced teeth, Inguinal hernia, High palate, Everted lower lip vermili... OMIM:218330
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Decreased body weight, Elevated circulating creatine kinase concentration, Abetalipopro... ORPHA:96180
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss... ORPHA:137888
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alkaline phosphatase concentration, Hypercholesterolemia, Increase... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concen... OMIM:613812
Tuberous Sclerosis 1
Shagreen patch, Dental enamel pits, Renal cyst, Gingival fibromatosis OMIM:191100
Flynn-Aird Syndrome
Carious teeth ORPHA:2047
8P Inverted Duplication/Deletion Syndrome
Retrognathia, High, narrow palate, Everted lower lip vermilion, Micrognathia, Wide mouth, Long ph... ORPHA:96092
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ... OMIM:617412
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis OMIM:266270
Familial Adenomatous Polyposis 1
Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Multiple lipomas, Keloids OMIM:175100
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Pulp calcification, Microdontia OMIM:606895
Familial Osteodysplasia, Anderson Type
Abnormal zygomatic bone morphology, Tooth malposition, Mandibular prognathia, Carious teeth, Fail... ORPHA:2769
Hepatoerythropoietic Porphyria
Scarring, Erythrodontia, Scarring alopecia of scalp ORPHA:95159
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Decreased liver function, Reduced bone mineral density, Anemia, Elevated cir... OMIM:613658
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Monosomy 18P
Short philtrum, Tooth malposition, Carious teeth, Downturned corners of mouth, Cleft palate, Micr... ORPHA:1598
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Carious teeth, Natal tooth, Hypo... ORPHA:353281
Pallister-Hall Syndrome
Cleft upper lip, Cleft palate, Natal tooth, Microglossia OMIM:146510
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Delayed eruption of teeth, M... OMIM:211380
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m... ORPHA:1299
Rothmund-Thomson Syndrome
Supernumerary tooth, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective toot... ORPHA:2909
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Ankyloglossia, Carious teeth, Downturned corners of mouth, Bifid uvula, Micrognat... OMIM:620186
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Delayed eruption of teeth, Camptodactyly, Omphalocele, Thick upper lip vermilion... OMIM:247200
Osteogenesis Imperfecta, Type X
Micrognathia, Dentinogenesis imperfecta, Inguinal hernia, Malar flattening OMIM:613848
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Bifid... ORPHA:87
Cystic Echinococcosis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:400
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:620157
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening ORPHA:93262
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:616026
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder, Reduced leukocyte alkaline phosphatase OMIM:254700
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Albers-Schönberg Osteopetrosis
Carious teeth, Mandibular osteomyelitis, Abnormality of the dentition ORPHA:53
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Elevated circulating hepatic transaminase co... ORPHA:263455
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ... OMIM:268400
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Thick vermilion border OMIM:617102
Cornelia De Lange Syndrome 6
Long philtrum, Cleft lip, Macrodontia of permanent maxillary central incisor, Inguinal hernia OMIM:620568
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Inguinal hernia OMIM:610915
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening OMIM:108721
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft pa... ORPHA:2250
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Acrofacial Dysostosis, Catania Type
Abnormal palate morphology, Inguinal hernia, Abnormality of the dentition, Tooth agenesis, Cariou... ORPHA:1786
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Elevated circulating creatine kinase concentration, Pathologic fracture, ... ORPHA:52430
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... OMIM:615424
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Hypodontia, Dental m... OMIM:101800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Eruption failure, High palate, Abnormality of the dentition, Micrognathia, Long ... ORPHA:476126
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Multiple renal cysts, Um... ORPHA:534
X-Linked Hypophosphatemia
Abnormal dentin morphology, Tooth abscess, Enthesitis, Cellulitis, Odontodysplasia ORPHA:89936
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Cyanosis, Transient Neonatal
Jaundice, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, ... OMIM:602080
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Thin vermilion border, Delayed eruption of teeth, Narrow philtrum, Hyp... OMIM:601812
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Delayed eruption of teeth, Gingival overgrowth, Wrist flexion contract... OMIM:259600
Ane Syndrome
Lipoatrophy, Premature loss of teeth, Carious teeth, Hypodontia, Multiple joint contractures ORPHA:157954
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
High palate, Carious teeth, Smooth philtrum, Long philtrum, Thin upper lip vermilion OMIM:620191
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated circulating creatine kinase concentration, Elevated alkaline phosphatase of bone origin,... OMIM:167320
Kenny-Caffey Syndrome, Type 1
Carious teeth, Calvarial osteosclerosis OMIM:244460
Paget Disease Of Bone 6
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Osteoarthritis OMIM:616833
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, Umbilical hernia, Dent... ORPHA:3079
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Inguinal hernia, Dental crowding, High palate, Hypoplasia of teeth, Micrognathia, O... OMIM:620654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Lacrimoauriculodentodigital Syndrome
Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Abnormali... ORPHA:2363
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Thick lower lip vermilion, Delayed eruption of teeth, Narrow mouth, Abnormal... ORPHA:369950
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Ectopic ossification in tendon tissue, Ectopic ossification in ligament tiss... OMIM:135100
Pachydermoperiostosis
Gastrointestinal hemorrhage, Anemia, Abnormal cortical bone morphology, Arthritis, Limitation of ... ORPHA:2796
Orofaciodigital Syndrome Type 1
Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Abnormality of ... ORPHA:2750
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Lipomas of eyelids OMIM:167730
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Microdontia, Limb joint cont... OMIM:301072
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Delayed eruption of teeth ORPHA:79443
Monosomy 9Q22.3
Orofacial cleft, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, Narrow mouth, Umb... ORPHA:77301
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Accessory oral frenulum ORPHA:79113
Nager Syndrome
Abnormal palate morphology, Non-midline cleft of the upper lip, Hypoplasia of the maxilla, Microg... ORPHA:245
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Cleft palate, Microretrognathi... ORPHA:1307
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth... ORPHA:2136
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Meckel Syndrome, Type 1
Omphalocele, Cleft upper lip, Micrognathia, Cleft palate, Lobulated tongue, Wide mouth, Natal too... OMIM:249000
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormal dental enamel morphology, Gingivitis, Carious teeth, Premature... ORPHA:2908
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Micrognathia, Bifid ... OMIM:300990
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Rickets... ORPHA:289176
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Increased bone mineral density, Coarse ... ORPHA:85188
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Steatorrhea, Hypertriglyceridemia, Elevated circulating he... ORPHA:275761
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Thin lower lip vermilion, Abnormality of the dentition, Camptodactyly, Carious teet... ORPHA:363444
Restrictive Dermopathy 1
Temporomandibular joint ankylosis, Narrow mouth, Micrognathia, Natal tooth, Limb joint contractur... OMIM:275210
Fibrous Dysplasia Of Bone
Rickets, Abnormality of the sphenoid sinus, Elevated circulating alkaline phosphatase concentrati... ORPHA:249
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... OMIM:300554
Otopalatodigital Syndrome, Type I
Absent frontal sinuses, Selective tooth agenesis, Narrow mouth, Omphalocele, Cleft palate, Malar ... OMIM:311300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Gingival overgrowth, Panniculitis, Delayed eruption of teeth ORPHA:508542
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Lead Poisoning
Delayed eruption of teeth ORPHA:330015
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:567983
Spondyloenchondrodysplasia
Dental malocclusion, Delayed eruption of teeth ORPHA:1855
Zimmermann-Laband Syndrome 1
Short philtrum, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Mandibular... OMIM:135500
Johnson Neuroectodermal Syndrome
Carious teeth, Cleft palate, Everted lower lip vermilion ORPHA:2316
Shwachman-Diamond Syndrome 1
Steatorrhea, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentrat... OMIM:260400
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Restrictive Dermopathy
Temporomandibular joint ankylosis, Narrow mouth, Arthrogryposis multiplex congenita, Camptodactyl... ORPHA:1662
Cockayne Syndrome Type 3
Enamel hypoplasia, Carious teeth, Flexion contracture ORPHA:90324
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Osteogenesis Imperfecta
Inguinal hernia, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel m... ORPHA:666
Incontinentia Pigmenti
Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo... ORPHA:464
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, Delayed eruption of teeth, High palate, Open mouth, Deep philtrum ORPHA:1675
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
De Barsy Syndrome
Inguinal hernia, Delayed eruption of teeth, High palate, Narrow mouth, Lipodystrophy, Umbilical h... ORPHA:2962
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
High palate, Carious teeth, Downturned corners of mouth, Micrognathia, Alveolar ridge overgrowth OMIM:620070
Dubowitz Syndrome
Inguinal hernia, Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficie... OMIM:223370
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet... OMIM:149730
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Abnormal adipose tissue morphology, Abnormal de... ORPHA:2092
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Tooth malposition, Micrognathia, Hip contracture, Hypercalcemia, Hypophosphatemia, Kn... OMIM:156400
Oliver Syndrome
Short philtrum, Mandibular prognathia, Elbow flexion contracture, High palate, Camptodactyly of f... ORPHA:2920
Osteoglophonic Dysplasia
Inguinal hernia, Delayed eruption of teeth, Eruption failure, Mandibular prognathia, High palate,... OMIM:166250
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth ORPHA:93325
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Micro... ORPHA:221008
Carpenter Syndrome 1
High palate, Camptodactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Omphalocele,... OMIM:201000
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Conj... OMIM:605479
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Renal cyst, Enamel hypoplasia, Abnormal oral mucosa morphology, Ero... ORPHA:79404
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Hypophosphatemia, Osteomalacia, Elevated circulating alkaline phosphatase c... OMIM:134600
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Retrognathia, Orofacial cleft, Inguinal hernia, Triangular mouth, Delayed eruption... OMIM:180700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Corneal scarring, C... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Corneal scarring, C... ORPHA:353277
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Abnormal dental enamel morphology, High palate, Abnormality of the den... ORPHA:221016
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia, Thick lower lip vermilion, Narrow mouth OMIM:613804
Distal Duplication 5Q
Thin vermilion border, Narrow mouth, Carious teeth, Micrognathia, Long philtrum, Hernia ORPHA:96097
Incontinentia Pigmenti
Scarring, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia OMIM:308300
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia ORPHA:90024
Congenital Erythropoietic Porphyria
Scarring, Erythrodontia, Increased connective tissue, Scarring alopecia of scalp ORPHA:79277
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Camptodactyly of finger, Long philtrum, ... ORPHA:178303
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concentration, Elevat... ORPHA:79302
Crouzon Syndrome
Narrow palate, Hypoplasia of the maxilla ORPHA:207
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Thin vermilion border, Delayed eruption of teeth, Hypodontia, Narrow mouth, Reduced ... OMIM:264090
Lowe Oculocerebrorenal Syndrome
Corneal scarring, Camptodactyly of finger, Enamel hypoplasia, Keloids, Joint contracture of the hand OMIM:309000
Glycosylphosphatidylinositol Biosynthesis Defect 25
Ankle flexion contracture, Low alkaline phosphatase OMIM:619985
Rubinstein-Taybi Syndrome 1
Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Narrow mouth, Talon cusp, High... OMIM:180849
Cockayne Syndrome
Congenital contracture, Abnormal dental morphology, Reduced subcutaneous adipose tissue, Contract... ORPHA:191
Specific Granule Deficiency 1
Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegmentation of neutrophil nu... OMIM:245480
Gardner Syndrome
Supernumerary tooth, Lipoma, Odontoma, Abnormality of the dentition, Multiple unerupted teeth, Ke... ORPHA:79665
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology... OMIM:612301
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abnormal circulating lipid concentration, Steatorrhea, Jaundice, E... ORPHA:186
Caroli Disease
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Leuk... ORPHA:53035
Chromosome 19Q13.11 Deletion Syndrome, Distal
Retrognathia, Thin vermilion border, Solitary median maxillary central incisor, Short philtrum, I... OMIM:613026
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Severe failure to thrive, Elevated circulating hepatic tra... ORPHA:30391
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypomagnesemia 3, Renal
Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel OMIM:248250
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, High palate, Narrow mouth, Carious teeth, Malar flattening, Lipodystrophy, Long ... OMIM:219200
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Delayed eruption of teeth, Carious teeth, Flexion contracture, Umbilical hernia,... OMIM:253200
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, High, narrow palate, Widely spaced teeth, Inguinal hernia, Delay... OMIM:122470
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Inguinal hernia, Abnormal dental enamel morphology, Mandibular prognathia, F... ORPHA:2658
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Bifid uvula, Cleft palate, Malar... OMIM:101200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal c... ORPHA:264580
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th... ORPHA:293939
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology ORPHA:79430
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Reduced bone mineral density, Hypophosphatemic rick... ORPHA:157215
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Diarrhea, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thr... OMIM:618278
Robinow Syndrome
Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Broad alveolar ridges, Dental c... ORPHA:97360
Ctcf-Related Neurodevelopmental Disorder
Thin vermilion border, Short philtrum, Joint contracture of the 5th finger, Inguinal hernia, Narr... ORPHA:363611
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Tooth malposition, Omphalocele, Micrognathia... OMIM:309350
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy... ORPHA:85451
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal c... ORPHA:79240
Al Amyloidosis
Gastrointestinal hemorrhage, Anemia, Increased circulating NT-proBNP concentration, Gastroparesis... ORPHA:85443
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate, Flexion contracture OMIM:218000
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Umbilical hernia, Joint hypermobility, Recurrent fractures, Thin bony c... OMIM:617952
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Oligodontia, Abnormality of the dentition, Umbilical hernia ORPHA:2095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Widely spaced teeth, Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Inguin... OMIM:280000
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male... ORPHA:168563
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Osteomalacia,... OMIM:300009
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Mandibular prognathia, High palate OMIM:123500
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micrognathia, Narrow mouth OMIM:618810
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Kenny-Caffey Syndrome, Type 2
Anemia, Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened corte... OMIM:127000
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Oncogenic Osteomalacia
Pathologic fracture, Hypocalcemia, Hypophosphatemia, Fibrous dysplasia of the bones, Elevated cir... ORPHA:352540
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flattening ORPHA:86818
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline phosphatase concentration... OMIM:615716
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Microdontia, Oral leukoplakia OMIM:224230
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Flexion contracture ORPHA:220393
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... OMIM:105830
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Eruption failure, Micrognathia, Umbilical hernia,... OMIM:230740
Pfeiffer Syndrome
Hypoplasia of the maxilla, Dental crowding, Mandibular prognathia, High palate OMIM:101600
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion OMIM:259730
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Elevate... OMIM:619525
Congenital Disorder Of Glycosylation, Type Iiaa
Elevated circulating alkaline phosphatase concentration, Hyperammonemia, Knee flexion contracture... OMIM:620454
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Marshall Syndrome
Thick lower lip vermilion, High palate, Abnormality of the dentition, Hypoplastic frontal sinuses... ORPHA:560
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Dental crowding, Tooth agenesis, Wide mouth, Umbilical hernia, Long philtrum, Narro... OMIM:268310
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Inguinal hernia, Delayed eruption of teeth, Oligodontia, Omphalo... OMIM:305600
Kagami-Ogata Syndrome
Retrognathia, Inguinal hernia, Omphalocele, Hypoplasia of the maxilla, Micrognathia, Flexion cont... OMIM:608149
Kaufman Oculocerebrofacial Syndrome
High palate, Narrow mouth, Failure to thrive, Carious teeth, Micrognathia, Smooth philtrum, Hypoc... OMIM:244450
Van Maldergem Syndrome 1
High palate, Camptodactyly, Irregular dentition, Hypoplasia of the maxilla, Downturned corners of... OMIM:601390
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:3044
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Osteogenesis Imperfecta, Type Vii
Long philtrum, Dentinogenesis imperfecta OMIM:610682
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, High palate, Hypoplasia of the maxilla, Micrognathia, Flexion co... OMIM:309520
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Cowden Syndrome 5
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Ovarian cyst... OMIM:615108
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Rubinstein-Taybi Syndrome
High palate, Abnormality of the dentition, Carious teeth, Micrognathia, Atypical scarring of skin... ORPHA:783
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Hyperbilirub... OMIM:617156
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth OMIM:617799
Poikiloderma With Neutropenia
Retrognathia, Carious teeth, Micrognathia, Recurrent sinusitis, Long philtrum OMIM:604173
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Dubowitz Syndrome
Delayed eruption of teeth, High palate, Abnormality of the dentition, Micrognathia, Wide mouth, S... ORPHA:235
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Dental crowding, Mandibular progna... OMIM:614188
Developmental And Epileptic Encephalopathy 80
High palate, Protruding tongue, Failure to thrive, Micrognathia, Wide mouth, Tented upper lip ver... OMIM:618580
Distal Deletion 19P
Short philtrum, Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Umbilical hernia, Keloids ORPHA:96129
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Tooth agenesis, Sinusitis, Hypoplasia of the maxilla, Abnormal dent... ORPHA:238468
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Pierre-Robin... OMIM:268305
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Gastroesophageal reflux, Splenic cyst, Inguinal hernia,... OMIM:618188
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Dental crowding, High palate, Camptodacty... OMIM:617602
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, High, narrow palate, Joint hypermobility, Premature loss of tee... ORPHA:369837
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Retrognathia, Short philtrum, Congenital generalized lipodystrophy, Premature loss o... ORPHA:3455
Microphthalmia, Syndromic 2
Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Oligodontia,... OMIM:300166
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Carious teeth, Mandibular prognathia OMIM:131300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, High palate, Microdontia, Carious teeth, Micrognathia, Dentinogenesis imperfecta,... ORPHA:536467
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta... OMIM:613095
Holoprosencephaly 9
Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ... OMIM:610829
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614702
Coffin-Siris Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, Wide mouth, Broad philtrum, Hernia, Thin up... ORPHA:1465
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Jaundice, Epiphyseal stippling, E... OMIM:614866
Doors Syndrome
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu... ORPHA:79500
Cockayne Syndrome B
Dental malocclusion, Mandibular prognathia, Hypoplasia of teeth, Carious teeth, Reduced subcutane... OMIM:133540
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Long philtrum, Submucous cleft h... OMIM:613805
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Reticulocytosis, Hepatosplenomegaly, Spl... ORPHA:846
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Low alkaline phosphatase, Splenomegaly, Decreased serum zinc OMIM:201100
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Fle... OMIM:300534
Prolidase Deficiency
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:742
Neuroleptic Malignant Syndrome
Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Hypocalcemi... ORPHA:94093
Cowden Syndrome 6
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Ovarian cyst... OMIM:615109
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Delayed eruption of teeth, Inguinal hernia, Dental crowding, Mandibular progna... OMIM:619503
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated plasma cell coun... ORPHA:90041
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Widely spaced teeth, Dental crowding, Mandibular prognathia, Hig... OMIM:618371
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short philtrum, Delayed ossification of carpal bones, Mandibular prognathia, Cleft upper lip, Dow... OMIM:239300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, High palate, Downturned corners of mouth, Wide mouth, Malar flattening, Smooth philtr... OMIM:618590
Geroderma Osteodysplasticum
Periodontitis, Mandibular prognathia, Abnormality of the dentition, Camptodactyly, Hypoplasia of ... OMIM:231070
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Wrinkly Skin Syndrome
Inguinal hernia, Delayed eruption of teeth, High palate, Carious teeth, Lipodystrophy, Smooth phi... ORPHA:2834
Frontorhiny
Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of finger, Cleft palate, Pe... ORPHA:391474
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Camurati-Engelmann Disease
Abnormal subcutaneous fat tissue distribution, Carious teeth, Craniofacial osteosclerosis, Delaye... ORPHA:1328
Familial Adenomatous Polyposis
Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c... ORPHA:733
Pitt-Hopkins Syndrome
Abnormal palate morphology, Short philtrum, Tooth malposition, Failure of eruption of permanent t... ORPHA:2896
Wrinkly Skin Syndrome
Inguinal hernia, Delayed eruption of teeth, High palate, Microdontia, Carious teeth, Microretrogn... OMIM:278250
Faciocardiomelic Syndrome
Micrognathia, Wide mouth, Long philtrum, Dental malocclusion, Hyperplasia of the maxilla OMIM:612731
Kindler Syndrome
Periodontitis, Carious teeth, Gingivitis, Oral leukoplakia OMIM:173650
Pallister-Hall Syndrome
Inguinal hernia, Cleft lip, Umbilical hernia, Bifid uvula, Natal tooth, Cleft palate, Microretrog... ORPHA:672
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ... ORPHA:470
Xq12-Q13.3 Duplication Syndrome
Elevated circulating creatine kinase concentration, Everted lower lip vermilion, Low alkaline pho... ORPHA:314389
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogo... OMIM:235200
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Widely spaced teeth, Increased serum bile acid concentrati... OMIM:618268
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, High palate, Hypoplasia of the maxilla, Flexion contracture, Smooth philtr... ORPHA:481152
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Normochromic anemia, Elevated gamma-glutamyltrans... ORPHA:247691
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Short dental root, Hypoplasia of the maxilla, Car... OMIM:182250
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Van Maldergem Syndrome 2
Inguinal hernia, High palate, Irregular dentition, Hypoplasia of the maxilla, Downturned corners ... OMIM:615546
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Ectodermal Dysplasia-Skin Fragility Syndrome
Scarring, Cheilitis, Abnormal tongue morphology, Abnormality of the dentition, Abnormal dental mo... ORPHA:158668
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Delayed eruption of teeth ORPHA:667
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Decreased circulating prealbumin concentration, Vomitin... ORPHA:90363
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity, Polycyt... OMIM:250800
Dent Disease
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Spa... ORPHA:1652
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Oral ulcer, Gingivitis, Carious teeth, Delayed eruption of permanent teeth ORPHA:79259
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Bloom Syndrome
Agenesis of maxillary lateral incisor, Malar flattening OMIM:210900
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... ORPHA:86816
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte... OMIM:620005
Arboleda-Tham Syndrome
Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt... OMIM:616268
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Multiple lipomas, Lipomas of eyelids ORPHA:2399
Caroli Syndrome
Hematemesis, Jaundice, Elevated circulating hepatic transaminase concentration, Melena, Intrahepa... ORPHA:480520
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Inguinal hernia, Mandibular prognathia, Hypoplasia of the maxilla, Camptodac... ORPHA:1101
Cohen Syndrome
High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the dentition, Tooth age... ORPHA:193
Proximal Renal Tubular Acidosis
Enamel hypomineralization ORPHA:47159
Aarskog-Scott Syndrome
Inguinal hernia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Broad philtrum, Curved... OMIM:305400
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Myhre Syndrome
Thin vermilion border, Gingival cleft, Craniofacial hyperostosis, Inguinal hernia, Mandibular pro... ORPHA:2588
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Developmental And Epileptic Encephalopathy 95
Widely spaced teeth, Multiple joint contractures, Inguinal hernia, Gingival overgrowth, Arthrogry... OMIM:618143
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Thick lower lip vermilion, Tooth malposition, High palate, Abnormality of the denti... ORPHA:2785
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplasia of the maxilla, Cleft up... OMIM:106260
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Inguinal hernia, High palate, Camptodactyly, Hypoplasia of the maxilla, Minimal su... OMIM:182212
Estrogen Resistance Syndrome
Osteopenia, Elevated tissue non-specific alkaline phosphatase, Osteoporosis, Delayed epiphyseal o... ORPHA:785
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Vent... OMIM:620609
Spondyloepimetaphyseal Dysplasia, Krakow Type
Delayed pubic bone ossification, Constipation, Knee flexion contracture, Sclerosis of skull base,... OMIM:618162
Schinzel-Giedion Syndrome
Retrognathia, Short philtrum, Delayed eruption of teeth, Inguinal hernia, Broad alveolar ridges, ... ORPHA:798
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Weight loss, Elevated circulating al... ORPHA:330001
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Dental crowding, Abn... ORPHA:3310
Tangier Disease
Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia ORPHA:31150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Widely spaced teeth, Delayed eruption of teeth, High palate, Microdontia, Camptodactyly of finger... OMIM:143095
Nablus Mask-Like Facial Syndrome
Retrognathia, High palate, Abnormality of the dentition, Everted lower lip vermilion, Camptodacty... OMIM:608156
Peters-Plus Syndrome
Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual frenulum, Exaggerated ... OMIM:261540
Cowden Syndrome 1
Narrow mouth, High palate, Furrowed tongue, Hypoplasia of the maxilla, Micrognathia, Ovarian cyst... OMIM:158350
3Mc Syndrome 2
High palate, Cleft upper lip, Downturned corners of mouth, Cleft palate, Broad philtrum, Prominen... OMIM:265050
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob... ORPHA:3206
Hutchinson-Gilford Progeria Syndrome
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Dental crowding, Short lingual fr... ORPHA:740
7Q31 Microdeletion Syndrome
Long philtrum, Wide mouth, Hypoplasia of the maxilla ORPHA:251061
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... OMIM:618280
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro... ORPHA:97214
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla... ORPHA:2556
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Widely spaced teeth, Triangular mouth, Gingival overgrowth, Elbow flex... OMIM:300868
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Martsolf Syndrome 1
Short philtrum, Inguinal hernia, Tooth malposition, High palate, Hypoplasia of the maxilla, Micro... OMIM:212720
Cerebrofacioarticular Syndrome
Narrow mouth, Camptodactyly, Irregular dentition, Hypoplasia of the maxilla, Micrognathia ORPHA:314679
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Retrognathia, Thick lower lip vermilion, Short philtrum, Delayed... OMIM:135900
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Hyperphosphatasia-Intellectual Disability Syndrome
Short philtrum, Mandibular prognathia, High palate, Downturned corners of mouth, Bifid uvula, Mic... ORPHA:247262
Weill-Marchesani Syndrome 1
Narrow palate, Hypoplasia of the maxilla, Abnormal dental morphology, Tooth malposition OMIM:277600
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Cleft palate, Elevated circulating alkaline phosphatase concentration... OMIM:614749
Cerebrocostomandibular Syndrome
Cleft soft palate, Short hard palate, Elbow flexion contracture, Glossoptosis, High palate, Renal... OMIM:117650
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Delayed eruption of teeth, Ing... OMIM:601803
Axenfeld-Rieger Syndrome, Type 1
Short philtrum, Oligodontia, Microdontia, Hypoplasia of the maxilla, Hypodontia, Thin upper lip v... OMIM:180500
Primary Hyperoxaluria
Rootless teeth, Abnormal dental pulp morphology, Abnormality of the dentition ORPHA:416
Goldberg-Shprintzen Syndrome
Short philtrum, Oligodontia, Everted lower lip vermilion, Hypoplasia of the maxilla, Thick vermil... OMIM:609460
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Sponastrime Dysplasia
Obtuse angle of mandible, Mandibular prognathia, Short dental root, Microdontia, Hypoplasia of th... ORPHA:93357
22Q11.2 Deletion Syndrome
Short philtrum, Inguinal hernia, Abnormal dental enamel morphology, Polycystic kidney dysplasia, ... ORPHA:567
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Broad alveolar ridges, Dental crowding, Elevated circulating 7-dehydrochole... OMIM:270400
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Spondyloocular Syndrome
Osteopenia, Femur fracture, Decreased body weight, Thin bony cortex OMIM:605822
Charge Syndrome
Abnormal soft palate morphology, Delayed eruption of teeth, Narrow mouth, Omphalocele, Cleft uppe... ORPHA:138
Hsd10 Disease, Infantile Type
Optic atrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Senior-Boichis Syndrome
Elevated circulating hepatic transaminase concentration, Anemia, Portal hypertension, Increased t... ORPHA:84081
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... ORPHA:3109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis OMIM:616897
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Widely spaced teeth, Delayed eruption of ... ORPHA:199
Primary Sclerosing Cholangitis
Osteopenia, Jaundice, Elevated circulating hepatic transaminase concentration, Elevated alkaline ... ORPHA:171
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis OMIM:309583
Mogs-Cdg
Optic atrophy, Hepatomegaly, External genital hypoplasia, Absent brainstem auditory responses, He... ORPHA:79330
Reynolds Syndrome
Gastrointestinal hemorrhage, Steatorrhea, Elevated circulating hepatic transaminase concentration... OMIM:613471
Van Den Ende-Gupta Syndrome
High, narrow palate, Camptodactyly of 2nd-5th fingers, Dental crowding, Elbow flexion contracture... OMIM:600920
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Vomiting, ... ORPHA:521219
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Narrow mouth, Mandibular aplasia, Hypoplasia of the maxilla, C... ORPHA:2554
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Inguinal hernia, Downturned corners of mouth, Micrognathia, Smooth philtrum, Long philtrum, Eleva... OMIM:618548
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Saethre-Chotzen Syndrome
Narrow palate, Open bite, Cleft palate, Hypoplasia of the maxilla ORPHA:794
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Thymoma
Aplastic anemia, Rheumatoid arthritis, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin ... ORPHA:99867
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Cleft palate,... ORPHA:306542
Gallbladder Disease 1
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:600803
Genitopatellar Syndrome
Micrognathia, Hip contracture, Knee flexion contracture, Delayed eruption of teeth OMIM:606170
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Shprintzen-Goldberg Syndrome
Retrognathia, High, narrow palate, Inguinal hernia, Hypoplasia of the maxilla, Camptodactyly of f... ORPHA:2462
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Chilton-Okur-Chung Neurodevelopmental Syndrome
Agenesis of incisor, Widely spaced teeth, Short philtrum, Mandibular prognathia, Ankyloglossia, M... OMIM:619841
Combined Oxidative Phosphorylation Deficiency 58
Vomiting, Hyperprolinemia, Elevated circulating alkaline phosphatase concentration, Hyperalaninemia OMIM:620451
Boudin-Mortier Syndrome
Joint hypermobility, Elevated alkaline phosphatase of bone origin, Malar flattening OMIM:619543
Mowat-Wilson Syndrome
Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Cleft palate, Submucous cleft ... OMIM:235730
Meier-Gorlin Syndrome 3
Narrow mouth, Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Microretrognathia OMIM:613803
Ablepharon Macrostomia Syndrome
Thin vermilion border, Microdontia, Omphalocele, Hypoplasia of the maxilla, Camptodactyly of fing... ORPHA:920
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline phosphatase concentration... OMIM:614207
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated alkaline phosphatase ... ORPHA:100085
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptodactyly of finger ORPHA:2273
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Floating-Harbor Syndrome
Short philtrum, Polycystic kidney dysplasia, Oligodontia, Microdontia, Persistence of primary tee... ORPHA:2044
Microphthalmia With Limb Anomalies
Thin vermilion border, Camptodactyly of 2nd-5th fingers, High palate, Hypoplasia of the maxilla, ... ORPHA:1106
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Inguinal hernia, Oligodontia, Selective tooth agenesis, Microdontia, Hyp... OMIM:129900
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... OMIM:105210
Aspartylglucosaminuria
Inguinal hernia, Gingival overgrowth, Mandibular prognathia, Abnormality of the dentition, Cariou... ORPHA:93
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine ORPHA:79345
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Acquired Methemoglobinemia
Vomiting, Methemoglobinemia ORPHA:464453
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Microdontia, Hypoplasia of the maxilla, Cariou... OMIM:604292
Weill-Marchesani Syndrome 2
Narrow palate, Flexion contracture of toe, Tooth malposition, Elbow flexion contracture, High pal... OMIM:608328
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... ORPHA:465508
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly OMIM:619259
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Aicardi Syndrome
Short philtrum, Cleft upper lip, Cleft palate, Multiple lipomas, Prominence of the premaxilla, Hi... ORPHA:50
Frank-Ter Haar Syndrome
Osteopenia, Camptodactyly, Cortical irregularity, Osteoporosis OMIM:249420
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F OMIM:617101
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short philtrum, Gingival overgrowth, Glossoptosis, High pala... OMIM:602535
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension OMIM:268800
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Camptodactyly, Microdontia, Hypoplasia of the maxilla, Micrognathia, C... OMIM:224690
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elevated gamma-gluta... ORPHA:562639
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Increased circulating ferritin concentration, Jaundice, Hypercholesterolemia, Gastroe... OMIM:619534
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Hyperuricemia, Abnormality of alkaline p... OMIM:137920
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microdontia of primary teeth, Inguinal hernia, Gingival overgrowth, High palate, Hypoplasia of th... OMIM:213980
Williams Syndrome
Thick lower lip vermilion, Dental malocclusion, Inguinal hernia, Hypodontia, Abnormal dental enam... ORPHA:904
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema OMIM:146255
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Camptodactyly, Median cleft pa... OMIM:617402
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Truncal obesity, A... ORPHA:64
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Lipoma, Abnormal dental enamel morphology, Enlarge... ORPHA:744
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy ORPHA:268
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina ORPHA:2237
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... OMIM:608232
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... OMIM:602782
Saethre-Chotzen Syndrome
Narrow palate, Cleft of chin, Hypoplasia of the maxilla, Cleft palate, Malar flattening OMIM:101400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Hypertyrosinem... OMIM:124000
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed eruption of teeth, Tooth ma... ORPHA:261537
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Nausea, Weight loss, Elev... ORPHA:100086
Mowat-Wilson Syndrome
Widely spaced teeth, Thick lower lip vermilion, Cleft hard palate, Delayed eruption of teeth, Too... ORPHA:2152
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Aicardi Syndrome
Lipoma, Cleft upper lip, Cleft palate, Prominence of the premaxilla, Hiatus hernia OMIM:304050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Gastroesophageal reflux, Constipation, Joint stiffness, Abnormal hemoglobin, Flexion cont... ORPHA:847
Myhre Syndrome
Short philtrum, Mandibular prognathia, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Cl... OMIM:139210
Sotos Syndrome
Ankle flexion contracture, Inguinal hernia, Bilateral camptodactyly, Abnormality of the dentition... ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed eruption of teeth, Tooth ma... ORPHA:261552
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypokalemia, Hypocalcemia, Hypouricemia, Vomiting, ... ORPHA:411634
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Zttk Syndrome
Thin vermilion border, Short philtrum, High palate, Abnormality of the dentition, Narrow mouth, H... OMIM:617140
Bartsocas-Papas Syndrome 1
Inguinal hernia, Oral synechia, Omphalocele, Hypoplasia of the maxilla, Cleft upper lip, Microgna... OMIM:263650
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Scarring, Inguinal hernia, High palate, Micrognath... OMIM:614437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney OMIM:608836
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Greenberg Dysplasia
Hypoplasia of the maxilla, Retrognathia, Micrognathia OMIM:215140
Johanson-Blizzard Syndrome
Long philtrum, Downturned corners of mouth, Hypoplasia of the primary teeth, Agenesis of permanen... OMIM:243800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Gastroesophageal reflux, Reduced alpha/beta synthe... OMIM:301040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Overgrowth o... OMIM:130650
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Pathologic fracture, Elbow flexion contracture, Osteoporosis, Camptod... OMIM:601559
Microphthalmia, Syndromic 1
Orofacial cleft, High, narrow palate, Tooth malposition, Dental crowding, High palate, Camptodact... OMIM:309800
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Arthritis, Joint stiffness, ... ORPHA:56
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... ORPHA:581
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Branchiooculofacial Syndrome
Branchial anomaly, Elbow flexion contracture, Abnormality of the dentition, Renal cyst, Cleft of ... OMIM:113620
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Short philtrum, Mandibular prognathia, Narrow mouth, Camptodactyly, Omphalocele, Hy... ORPHA:96334
Schinzel-Giedion Midface Retraction Syndrome
Splenopancreatic fusion, Failure to thrive, Thickened cortex of long bones, Sclerosis of skull ba... OMIM:269150
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Delayed ossification of carpal bones, Abnormality of alkaline phosphatas... OMIM:300106
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Bohring-Opitz Syndrome
Optic atrophy, Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Cryptorchidism OMIM:620371
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones OMIM:620558
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Inguinal hernia, Aplastic zygomatic arch, High palate, Hypoplasia of the maxilla, M... OMIM:616462
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Hepatosplenomegaly, Splenomegaly, Epididymitis, Cardiomegaly OMIM:620376
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Abnormal heart m... ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Cryptorchidism, Tetralogy of Fallot, Cardiomeg... ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Okamoto Syndrome
Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ... ORPHA:2729
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Primrose Syndrome
Thick lower lip vermilion, Increased size of the mandible, Narrow mouth, High palate, Hypoplasia ... OMIM:259050
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Aplasia of the uterus, Tetralogy of Fallot, Hepatosplenomegaly, At... OMIM:274000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Osteopenia ORPHA:488434
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Hypoplasia of the maxilla, Downturned corners of mouth, Bi... ORPHA:500150
Craniofacial Microsomia 1
Transverse facial cleft, Branchial anomaly, Maxillozygomatic hypoplasia, Hypoplasia of the maxill... OMIM:164210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Generalized Arterial Calcification Of Infancy
Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Fused cervical vertebrae,... ORPHA:51608
Aicardi-Goutières Syndrome
Cardiomegaly, Micropenis, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... ORPHA:116
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Dilatation of the ventr... OMIM:619991
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Epididymitis, Hepatomegaly, Splenomegaly OMIM:256040
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus, Ventricular septal defect, Complete atriov... OMIM:236680
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Cryptorchidism, Bifid ut... OMIM:107480
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru... OMIM:256520
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocele, Uteri... OMIM:130050
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Atrial septal defect, Ven... OMIM:194190
17Q11 Microdeletion Syndrome
Osteopenia, Osteoporosis, Osteolysis, Thickened cortex of long bones, Leukemia ORPHA:97685
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Mitral valve pro... ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Tooth - MPATH pathological process term dysplasia Enamem1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Enam.

No publications found that use IMPC mice or data for Enam.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Enamtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Enamem1(IMPC)Tcp Intra-exon deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter